Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A
Апстракт
We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G gt A mutation (legacy name 1525-1G gt A).
Извор:
Journal of Cystic Fibrosis, 2014, 13, 1, 111-113Издавач:
- Elsevier Science Bv, Amsterdam
Финансирање / пројекти:
- Комплексне болести као модел систем за проучавање модулације фенотипа-структурна и функционална анализа молекуларних биомаркера (RS-MESTD-Basic Research (BR or ON)-173008)
DOI: 10.1016/j.jcf.2013.07.001
ISSN: 1569-1993
PubMed: 23933162
WoS: 000329951600018
Scopus: 2-s2.0-84890427705
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Nikolić, Aleksandra AU - Radlović, Nedeljko AU - Dinić, Jelena AU - Milosević, Katarina AU - Radojković, Dragica PY - 2014 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/769 AB - We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G gt A mutation (legacy name 1525-1G gt A). PB - Elsevier Science Bv, Amsterdam T2 - Journal of Cystic Fibrosis T1 - Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A EP - 113 IS - 1 SP - 111 VL - 13 DO - 10.1016/j.jcf.2013.07.001 ER -
@article{ author = "Nikolić, Aleksandra and Radlović, Nedeljko and Dinić, Jelena and Milosević, Katarina and Radojković, Dragica", year = "2014", abstract = "We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G gt A mutation (legacy name 1525-1G gt A).", publisher = "Elsevier Science Bv, Amsterdam", journal = "Journal of Cystic Fibrosis", title = "Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A", pages = "113-111", number = "1", volume = "13", doi = "10.1016/j.jcf.2013.07.001" }
Nikolić, A., Radlović, N., Dinić, J., Milosević, K.,& Radojković, D.. (2014). Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A. in Journal of Cystic Fibrosis Elsevier Science Bv, Amsterdam., 13(1), 111-113. https://doi.org/10.1016/j.jcf.2013.07.001
Nikolić A, Radlović N, Dinić J, Milosević K, Radojković D. Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A. in Journal of Cystic Fibrosis. 2014;13(1):111-113. doi:10.1016/j.jcf.2013.07.001 .
Nikolić, Aleksandra, Radlović, Nedeljko, Dinić, Jelena, Milosević, Katarina, Radojković, Dragica, "Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A" in Journal of Cystic Fibrosis, 13, no. 1 (2014):111-113, https://doi.org/10.1016/j.jcf.2013.07.001 . .